OBO ID: DOID:0080730
Term Name: Ehlers-Danlos syndrome cardiac valvular type Search Ontology:
Synonyms:
Definition: An Ehlers-Danlos syndrome that is characterized by severe problems with heart valves and that has_material_basis_in homozygous or compound heterozygous mutation in the COL1A2 gene on chromosome 7q21. https://pubmed.ncbi.nlm.nih.gov/16816023/
References:
Ontology: Human Disease   (DOID:0080730)
OTHER Ehlers-Danlos syndrome cardiac valvular type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL1A2 Ehlers-Danlos syndrome, cardiac valvular type 225320
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None